Surgical management for isolated macrodactyly in an adult PIK3CA mutant

Autor: Maaike Vreeburg, C.J. Jacobs, T. Lauwers, C. E. M. De Die-Smulders, H.M. Staal

Publikováno v: JPRAS Open, 26, 86-90. Elsevier Limited
JPRAS Open
JPRAS Open, Vol 26, Iss, Pp 86-90 (2020)

Isolated macrodactyly in adults caused by mosaic pattern PIK3CA mutation can result in significant functional impairment and psychological burden. Due to the rarity of this condition there are no clear treatment guidelines, and those few available ar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::723765237628f90b5a79b744258599ab
https://doi.org/10.1016/j.jpra.2020.10.002

Motives and considerations regarding PGT in couples carrying a structural chromosomal abnormality: a qualitative exploration

Autor: W. L. Vlieg, C. E. M. De Die-Smulders, Yvonne Arens, Y. Severijns, R. van Golde, L.A.D.M. van Osch, G. De Krom

Publikováno v: Journal of Assisted Reproduction and Genetics, 37(7), 1719-1727. Springer
Journal of Assisted Reproduction and Genetics

Purpose This study aims to describe the motives and considerations of couples carrying a structural chromosomal abnormality deciding on preimplantation genetic testing (PGT). Methods A qualitative exploratory study was conducted using semi-structured

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2ad3eccd7c880653867182dbf619b7c
https://cris.maastrichtuniversity.nl/en/publications/24cab782-1353-4a08-9e91-119623cf580d

Psychology and counselling

Autor: H. Van Parys, E. Wyverkens, V. Provoost, A. Ravelingien, I. Raes, S. Somers, I. Stuyver, P. De Sutter, G. Pennings, A. Buysse, V. S. Anttila, M. Salevaara, A. M. Suikkari, D. R. Listijono, S. Mooney, M. G. Chapman, U. Res Muravec, S. Pusica, M. Lomsek, M. Cizek Sajko, S. Parames, L. Semiao-Francisco, H. Sato, J. Ueno, L. van den Wijngaard, M. H. Mochtar, H. van Dam, F. van der Veen, M. van Wely, I. A. P. Derks-Smeets, J. J. G. Habets, A. Tibben, V. C. G. Tjan-Heijnen, M. Meijer-Hoogeveen, J. P. M. Geraedts, R. van Golde, E. Gomez-Garcia, C. E. M. de Die-Smulders, L. A. D. M. van Osch, C. M. Kets, S. Gullo, Z. Donarelli, G. L. Coco, A. Marino, A. Volpes, F. Sammartano, A. Allegra, J. Nekkebroeck, H. Tournaye, D. Stoop, G. Lo Coco, F. Coffaro, D. G. Diaz, M. A. Gonzalez, M. Tirado, S. Chamorro, P. Dolz, M. A. Gil, A. Ballesteros, E. Velilla, C. Castello, N. Moina, M. Lopez-Teijon, C. H. Y. Chan, C. L. W. Chan, M. K. H. Leong, I. K. M. Cheung, T. H. Y. Chan, B. N. L. Hui, A. J. C. M. van Dongen, A. G. Huppelschoten, J. A. M. Kremer, W. L. D. M. Nelen, C. M. Verhaak, H. G. Sun, K. H. Lee, I. H. Park, S. G. Kim, J. H. Lee, Y. Y. Kim, H. J. Kim, J. D. Cho, Y. J. Yoo, V. Frokjaer, A. Pinborg, E. C. Larsen, M. Heede, D. S. Stenbaek, S. Henningsson, A. P. Nielsen, C. Svarer, K. K. Holst, G. M. Knudsen, M. Emery, L. DeJonckheere, S. Rothen, M. Wisard, M. Germond, M. Toftager, L. V. Hjordt, P. S. Jensen, K. Holst, T. Holland, T. Bryndorf, J. Bogstad, P. Hornnes, V. G. Frokjaer, L. M. N. Dornelles, F. MacCallum, R. C. S. Lopes, C. A. Piccinini, E. P. Passos, C. Bruegge, P. Thorn, K. Daniels, S. Imrie, V. Jadva, S. Golombok, Y. Arens, G. De Krom, R. J. T. Van Golde, E. Coonen, C. M. A. Van Ravenswaaij-Arts, J. L. H. Evers, C. E. M. De Die-Smulders, G. Ghazeeri, J. Awwad, A. Fakih, H. Abbas, S. Harajly, L. Tawidian, F. Maalouf, D. Ajdukovic, M. Pibernik-Okanovic, M. S. Alebic, G. Baccino, C. Calatayud, E. Ricciarelli, E. R. H. de Miguel, K. Wierckx, H. Verstraelen, L. Van Glabeke, E. Van den Abbeel, J. Gerris, G. T'Sjoen, B. Monica, R. N. Calonge, P. C. Peregrin, R. Cserepes, J. Kollar, T. Wischmann, A. Bugan, C. Pinkard, C. Harrison, L. Bunting, J. Boivin, B. Fulford, N. Theusink-Kirchhoff, C. M. A. van Ravenswaaij-Arts, M. K. Bakker, C. Volks, Z. Papaligoura, D. Papadatou, T. H. Bellali, S. Jarvholm, M. Broberg, A. Thurin-Kjellberg, G. Weitzman, T. M. Van Der Putten-Landau, S. Chudnoff, E. Panagopoulou, B. Tarlatzis, V. Tamhankar, G. L. Jones, P. Magill, J. D. Skull, W. Ledger, H. W. Hvidman, I. O. Specht, K. T. Schmidt, A. N. Andersen, T. Freeman, S. Zadeh, V. Smith, L. H. R. Whitaker, J. Reid, J. Wilson, H. O. D. Critchley, A. W. Horne, B. Peterson, M. Pirritano, L. Schmidt, H. Volgsten, N. Hudson, L. Culley, C. Law, E. Denny, H. Mitchell, M. Baumgarten, N. Raine-Fenning, L. Blake, K. H. Kim

Publikováno v: Human Reproduction. 28:i261-i282

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::78319ca8589afc477c69f19360bef3f3
https://doi.org/10.1093/humrep/det218

Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008

Autor: P. F. Ippel, J. A. Maat-Kievit, J.P.M. Geraedts, Emilia K. Bijlsma, Cora M. Aalfs, M. C. van Rij, Monique Losekoot, Corien C. Verschuuren-Bemelmans, Mariet W. Elting, R A C Roos, Sascha Vermeer, M. J. van Belzen, Aad Tibben, R. D. M. Belfroid, P. A. M. de Koning Gans, C. E. M. De Die-Smulders

Publikováno v: Clinical Genetics. 85:78-86

This study aims to give an overview of the number of prenatal tests for Huntington's disease (HD), test results, and pregnancy outcomes in the Netherlands between 1998 and 2008 and to compare them with available data from the period 1987 to 1997. A t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f8ff6e5d016faaa9d3971fe82d792f30
https://doi.org/10.1111/cge.12090

Noninvasive detection of fetal trisomy 21: systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012

Autor: A. Coumans, Luc J.M. Smits, C. E. M. De Die-Smulders, Aimee D C Paulussen, Merryn V. E. Macville, L.A.A.P. van Winden, Suzanna G.M. Frints, Elke Mersy

Publikováno v: Human Reproduction Update, 19(4), 318-329. Oxford University Press

BACKGROUND Research on noninvasive prenatal testing (NIPT) of fetal trisomy 21 is developing fast. Commercial tests have become available. To provide an up-to-date overview of NIPT of trisomy 21, an evaluation of the methodological quality and outcom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8fc75a3b93f89be02465af984e2c47a
https://doi.org/10.1093/humupd/dmt001